Lathosterolosis
Lathosterolosis is an inborn error of cholesterol biosynthesis caused by a deficiency of the enzyme 3-beta-hydroxysteroid-delta-5-desaturase. This leads to a flaw in the conversion of lathosterol to 7-dehydrocholesterol. Characteristics include facial dysmorphism, congenital malformations, failure to thrive, developmental delay, and liver illness. Brunetti-Pierri et al. originally described Lathosterolosis in 2002.
| Lathosterolosis | |
|---|---|
| Other names | SC5D Deficiency, Sterol C5-desaturase deficiency. |
| Lathosterol | |
| Symptoms | Facial dysmorphism, congenital malformations, failure to thrive, developmental delay, and liver illness. |
| Usual onset | Birth. |
| Causes | SC5D mutations. |
| Differential diagnosis | Smith-Lemli-Opitz syndrome. |
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